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Webinar: Capture the dark genome – From repeat-expansions to CRISPR unintended mutations

When: June 30, 2020 Time: 3:00 pm

Sequenced genomes retain a surprisingly large number of “dark” regions – sections that have proven difficult to characterise via short-read sequencing and PCR-based approaches.

Potentially valuable information or disease-relevant function of tandem repeats, structural variants, and CG-rich regions is obscured by amplification bias, ambiguous read mapping, or simply the time and cost of alternative techniques.

This webinar will explore a new enrichment method that uses short (~150 bp) detection sequences to indirectly capture target stretches of DNA generating a high-fidelity enriched sample of long regions (>100 kb) that can be used in both short- and long-read targeted sequencing.

This webinar is designed to inspire new ideas and open up new possibilities in your research. Register to learn how indirect sequence capture lets you easily examine disease-related repeats and detect unintended CRISPR edits.


This webinar will last for around 45 minutes and be divided into three parts:

PART 1: Tackling Disease-Related Repeat-Expansion Analysis – Dr. Marzia Rossato, Researcher, Functional Genomic Lab, University of Verona, Italy

Dr. Marzia Rossato will delve into the details concerning clinically relevant “dark genomic regions” and how current sequencing technologies, including short- and long-reads, deal with these regions. Starting with a description of currently available diagnostic tools and what is still missing in standard diagnostics, she focuses on the importance of target enrichment for diagnostics and highlights the optimisation bias of current methods toward short-read sequencing. She then presents the benefits of coupling indirect sequence capture with long-read sequencing to overcome current technology limitations.

PART 2: Validation of CRISPR in a 100 kb Region Surrounding the Editing Site – Dr. Peter Mouritzen, Application Development Services, Samplix, Denmark

Dr. Peter Mouritzen will shift the spotlight to describe how indirect sequence capture can identify unintended mutations associated with CRISPR editing. Standard PCR approaches fail to detect these modifications because they focus only on the immediate vicinity of the edit site. By enriching and sequencing long DNA fragments, Dr. Mouritzen’s team was able to scrutinize ~100 kb around the engineered sites. When they used indirect sequence capture with Xdrop™, they detected CRISPR-induced indels in one of 2 characterised alleles, completely missed by gold-standard methods. Dr. Mouritzen gives practical advice on strategies to validate insertions, knock-outs, and candidate off-target events.

PART 3: The Launch of a Grant Program and Q&A

A grant program will be launched during the webinar with a budget of €15,000. For three grant winners, Samplix will perform a pilot service project tackling their specific complex genomic challenge.

There will also be time for Q&A at the end.

What you’ll learn from this webinar

  • How current sequencing technologies deal with “dark” and challenging genomic regions
  • An overview of currently available tools for genetic diagnostics and CRISPR validation
  • Genomic approaches capable of coupling target enrichment and long-read sequencing
  • Principles and outcomes of indirect sequence capture and how it works
  • Details about a €15,000 grant program and the chance to have Samplix run your pilot project with Xdrop™ indirect sequence capture services


This webinar has been made possible with the kind support of our partner, Samplix. We encourage anyone interested in finding out more about the technology discussed in this webinar to visit the Samplix website.

Webinar Registration


Dr. Marzia Rossato, Researcher Dr. Marzia Rossato, Researcher, Researcher, Functional Genomic Lab, University of Verona, Italy

Dr. Peter Mouritzen Dr. Peter Mouritzen, Application Development Services, Samplix, Denmark

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